loading...| Preferred Name |
Fundus albipunctatus |
| ID |
http://www.orpha.net/ORDO/Orphanet_227796 |
| definition |
Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796 |
| has_age_of_onset |
Childhood |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
ICD-11:9B70 OMIM:136880 UMLS:C0311338 ICD-10:H35.5 |
| label |
Fundus albipunctatus |
| notation |
ORPHA:227796 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_227796 |
| prefLabel |
Fundus albipunctatus |
| present_in |
Europe AND has_point_prevalence_range : Unknown |
| treeView | |
| subClassOf |